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Protein

Homeobox protein Nkx-3.2

Gene

NKX3-2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi206 – 26560HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Nkx-3.2
Alternative name(s):
Bagpipe homeobox protein homolog 1
Homeobox protein NK-3 homolog B
Gene namesi
Name:NKX3-2
Synonyms:BAPX1, NKX3B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:951. NKX3-2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet.

See also OMIM:613330

Keywords - Diseasei

Dwarfism

Organism-specific databases

MIMi613330. phenotype.
Orphaneti228387. Spondylo-megaepiphyseal-metaphyseal dysplasia.
PharmGKBiPA162397617.

Polymorphism and mutation databases

BioMutaiNKX3-2.
DMDMi6016210.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 333333Homeobox protein Nkx-3.2PRO_0000048947Add
BLAST

Proteomic databases

PaxDbiP78367.
PRIDEiP78367.

PTM databases

PhosphoSiteiP78367.

Expressioni

Tissue specificityi

Expressed at highest levels in cartilage, bone (osteosarcoma) and gut (small intestine and colon), whereas moderate expression is seen in trachea and brain. Expressed in visceral mesoderm and embryonic skeleton.1 Publication

Gene expression databases

BgeeiP78367.
CleanExiHS_NKX3-2.
GenevestigatoriP78367.

Organism-specific databases

HPAiHPA027564.

Interactioni

Protein-protein interaction databases

BioGridi107055. 6 interactions.
STRINGi9606.ENSP00000371875.

Structurei

3D structure databases

ProteinModelPortaliP78367.
SMRiP78367. Positions 187-270.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi180 – 1889Poly-Gly
Compositional biasi194 – 1985Poly-Glu
Compositional biasi327 – 3304Poly-Ala

Sequence similaritiesi

Belongs to the NK-3 homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG279137.
GeneTreeiENSGT00790000122940.
HOGENOMiHOG000231923.
HOVERGENiHBG006689.
InParanoidiP78367.
KOiK09995.
OMAiESPGGWD.
OrthoDBiEOG7QZG9Z.
PhylomeDBiP78367.
TreeFamiTF351204.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P78367-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAVRGANTLT SFSIQAILNK KEERGGLAAP EGRPAPGGTA ASVAAAPAVC
60 70 80 90 100
CWRLFGERDA GALGGAEDSL LASPAGTRTA AGRTAESPEG WDSDSALSEE
110 120 130 140 150
NESRRRCADA RGASGAGLAG GSLSLGQPVC ELAASKDLEE EAAGRSDSEM
160 170 180 190 200
SASVSGDRSP RTEDDGVGPR GAHVSALCSG AGGGGGSGPA GVAEEEEEPA
210 220 230 240 250
APKPRKKRSR AAFSHAQVFE LERRFNHQRY LSGPERADLA ASLKLTETQV
260 270 280 290 300
KIWFQNRRYK TKRRQMAADL LASAPAAKKV AVKVLVRDDQ RQYLPGEVLR
310 320 330
PPSLLPLQPS YYYPYYCLPG WALSTCAAAA GTQ
Length:333
Mass (Da):34,814
Last modified:July 15, 1999 - v2
Checksum:i8C406E188D27780B
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF005260 Genomic DNA. Translation: AAC39536.1.
AF009801 mRNA. Translation: AAB82783.1.
AF009802 Genomic DNA. Translation: AAB82784.1.
BC111966 mRNA. Translation: AAI11967.1.
U89845 Genomic DNA. Translation: AAB49696.1.
CCDSiCCDS3410.1.
RefSeqiNP_001180.1. NM_001189.3.
UniGeneiHs.590927.

Genome annotation databases

EnsembliENST00000382438; ENSP00000371875; ENSG00000109705.
GeneIDi579.
KEGGihsa:579.
UCSCiuc003gmx.2. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF005260 Genomic DNA. Translation: AAC39536.1.
AF009801 mRNA. Translation: AAB82783.1.
AF009802 Genomic DNA. Translation: AAB82784.1.
BC111966 mRNA. Translation: AAI11967.1.
U89845 Genomic DNA. Translation: AAB49696.1.
CCDSiCCDS3410.1.
RefSeqiNP_001180.1. NM_001189.3.
UniGeneiHs.590927.

3D structure databases

ProteinModelPortaliP78367.
SMRiP78367. Positions 187-270.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107055. 6 interactions.
STRINGi9606.ENSP00000371875.

PTM databases

PhosphoSiteiP78367.

Polymorphism and mutation databases

BioMutaiNKX3-2.
DMDMi6016210.

Proteomic databases

PaxDbiP78367.
PRIDEiP78367.

Protocols and materials databases

DNASUi579.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382438; ENSP00000371875; ENSG00000109705.
GeneIDi579.
KEGGihsa:579.
UCSCiuc003gmx.2. human.

Organism-specific databases

CTDi579.
GeneCardsiGC04M013542.
HGNCiHGNC:951. NKX3-2.
HPAiHPA027564.
MIMi602183. gene.
613330. phenotype.
neXtProtiNX_P78367.
Orphaneti228387. Spondylo-megaepiphyseal-metaphyseal dysplasia.
PharmGKBiPA162397617.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG279137.
GeneTreeiENSGT00790000122940.
HOGENOMiHOG000231923.
HOVERGENiHBG006689.
InParanoidiP78367.
KOiK09995.
OMAiESPGGWD.
OrthoDBiEOG7QZG9Z.
PhylomeDBiP78367.
TreeFamiTF351204.

Miscellaneous databases

GenomeRNAii579.
NextBioi2363.
PROiP78367.
SOURCEiSearch...

Gene expression databases

BgeeiP78367.
CleanExiHS_NKX3-2.
GenevestigatoriP78367.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe."
    Tribioli C., Lufkin T.
    Gene 203:225-233(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia."
    Yoshiura K., Murray J.C.
    Genomics 45:425-428(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "Bapx1: an evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeleton."
    Tribioli C., Frasch M., Lufkin T.
    Mech. Dev. 65:145-162(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 206-265.
  5. "Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia."
    Hellemans J., Simon M., Dheedene A., Alanay Y., Mihci E., Rifai L., Sefiani A., van Bever Y., Meradji M., Superti-Furga A., Mortier G.
    Am. J. Hum. Genet. 85:916-922(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SMMD, TISSUE SPECIFICITY.

Entry informationi

Entry nameiNKX32_HUMAN
AccessioniPrimary (citable) accession number: P78367
Secondary accession number(s): Q2M2I7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1999
Last modified: May 27, 2015
This is version 120 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.